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MIRAGE
developmental and epileptic encephalopathy 83
Summary
- Synonym
-
- DEE83
- early infantile epileptic encephalopathy 83
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112218
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16851 | UTP--glucose-1-phosphate uridylyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000817 | Reduced eye contact |
| HP:0011344 | Severe global developmental delay |
| HP:0001347 | Hyperreflexia |
| HP:0000343 | Long philtrum |
| HP:0002376 | Developmental regression |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0005280 | Depressed nasal bridge |
| HP:0000664 | Synophrys |
| HP:0009890 | High anterior hairline |
